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Article

Genotype-Phenotype Correlations in Phenylketonuria and Hyperphenylalaninemia: A Single-Center Study.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2026

Güneş Hatice, Kardaş Fatih, Erdoğan Murat, Ada Yasin, Arslan Sezai, Sarı Ümmü Alakuş, Akalın Hilal, İpekten Funda, Özçelik Fırat, Dündar Munis, Kendirci Mustafa

Abstract excerpt

BACKGROUND: Phenylketonuria (PKU) is an inherited metabolic disease associated with pathogenic variants in the phenylalanine hydroxylase (PAH) gene. We aimed to investigate the effect of allelic variants in the PAH gene on the chemical phenotype in patients with PKU and hyperphenylalaninemia (HPA) in our center. METHODS: We reviewed the medical files of patients diagnosed with PKU and HPA between 2013 and 2022...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 42290321
DOI: 10.1111/ped.70441

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PAH

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